Incidental Mutation 'IGL00931:Nfe2l2'
| ID |
26906 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfe2l2
|
| Ensembl Gene |
ENSMUSG00000015839 |
| Gene Name |
nuclear factor, erythroid derived 2, like 2 |
| Synonyms |
Nrf2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
IGL00931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
75505857-75534985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75506342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 586
(V586A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102672]
|
| AlphaFold |
Q60795 |
| PDB Structure |
Structural basis for the defects of human lung cancer somatic mutations in the repression activity of Keap1 on Nrf2 [X-RAY DIFFRACTION]
Crystal structure of the Keap1 protein in complexed with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]
Crystal Structure of Keap1 in Complex with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102672
AA Change: V586A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: V586A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
17 |
42 |
8e-10 |
PDB |
|
low complexity region
|
43 |
68 |
N/A |
INTRINSIC |
|
BRLZ
|
487 |
551 |
6.46e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in a variety of organs and cells including brain, liver, erythrocytes, and spleen, abnormal tooth enamel, and abnormal response to various injuries, chemical treatments, and induced inflammatory diseases. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a2 |
G |
A |
9: 71,123,251 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,167,225 (GRCm39) |
M1101V |
probably benign |
Het |
| Cyp4a12a |
G |
A |
4: 115,159,153 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Ddx60 |
C |
T |
8: 62,422,617 (GRCm39) |
S618L |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,528,170 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,755,860 (GRCm39) |
|
probably null |
Het |
| Fads2 |
A |
T |
19: 10,043,649 (GRCm39) |
D348E |
probably benign |
Het |
| Gpcpd1 |
G |
T |
2: 132,380,038 (GRCm39) |
F434L |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,286 (GRCm39) |
N34D |
possibly damaging |
Het |
| Ifitm1 |
A |
T |
7: 140,548,169 (GRCm39) |
M1L |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,882,772 (GRCm39) |
S605L |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,472,212 (GRCm39) |
D1261G |
probably damaging |
Het |
| Ndufs3 |
A |
G |
2: 90,732,846 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
T |
C |
18: 65,305,470 (GRCm39) |
I297T |
possibly damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,586,457 (GRCm39) |
W354R |
probably damaging |
Het |
| Slc35c1 |
T |
C |
2: 92,289,239 (GRCm39) |
D89G |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,574,162 (GRCm39) |
T17A |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,398,854 (GRCm39) |
M500L |
probably benign |
Het |
|
| Other mutations in Nfe2l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Nfe2l2
|
APN |
2 |
75,509,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Nfe2l2
|
APN |
2 |
75,508,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Nfe2l2
|
APN |
2 |
75,509,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
Scarlett
|
UTSW |
2 |
75,509,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0582:Nfe2l2
|
UTSW |
2 |
75,507,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0782:Nfe2l2
|
UTSW |
2 |
75,507,177 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1139:Nfe2l2
|
UTSW |
2 |
75,507,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2237:Nfe2l2
|
UTSW |
2 |
75,506,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2239:Nfe2l2
|
UTSW |
2 |
75,506,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4365:Nfe2l2
|
UTSW |
2 |
75,509,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Nfe2l2
|
UTSW |
2 |
75,506,353 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5328:Nfe2l2
|
UTSW |
2 |
75,507,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Nfe2l2
|
UTSW |
2 |
75,507,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5670:Nfe2l2
|
UTSW |
2 |
75,507,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6142:Nfe2l2
|
UTSW |
2 |
75,509,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6315:Nfe2l2
|
UTSW |
2 |
75,507,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Nfe2l2
|
UTSW |
2 |
75,506,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7621:Nfe2l2
|
UTSW |
2 |
75,509,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Nfe2l2
|
UTSW |
2 |
75,509,765 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9748:Nfe2l2
|
UTSW |
2 |
75,506,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nfe2l2
|
UTSW |
2 |
75,509,508 (GRCm39) |
missense |
probably null |
0.68 |
|
Z1177:Nfe2l2
|
UTSW |
2 |
75,507,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2013-04-17 |
Incidental Mutation